ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1286-2del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UO Genetica Medica, University of Bologna RCV002319774 SCV002588748 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2022-11-03 no assertion criteria provided provider interpretation The variant hits the splicing site damaging the function of the gene. It is absent in gnomAD and it has a "de novo" onset in the patient.

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